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- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to … on the following areas: Providing and overseeing expert clinical and administrative infrastructure and support for all NHGRI clinical research protocols, as well as basic science studies …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… The NHGRI Intramural Research Award distinguishes meritorious research … the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, … recognizes research achievements by trainees in basic, clinical, and social behavioral science research. … NHGRI …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… fertility, including sperm production. … An international research team has generated the first truly complete sequence … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … assembly methods, as well as knowledge gained from generating the first gapless sequences for the other 23 human …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… The National Human Genome Research Institute's Genome Sequencing Program Coordinating … Sequencing, Dna Sequence Analysis Tools, Bioinformatics, Clinical Informatics, Big Data, Data Science … Coordinates …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … for an intercurrent infection with antibiotics or has evidence of an acute infection; and any patient who does not … D.K., Nyhan W.L., Biesecker L.G., and Venditti C.P. Exome sequencing identifies ACSF3 as the cause of Combined Malonic …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… the Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement … across diverse ancestral groups and suitability for clinical use, among others. The WG will identify specific … and disseminating Consortium-wide PRS analyses. … Research Funding …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… The Genome Sequencing Program Analysis Centers (GSPACs) were funded in … Sequencing, Dna Sequence Analysis Tools, Bioinformatics, Clinical Informatics, Big Data, Data Science … Funded in 2016 … and analyze the data produced by the sequencing centers. … Research Funding …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations and their … Your blood sample, when processed for next generations sequencing, can reveal changes in the DNA of your blood …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Medical and research centers are increasingly sequencing patient exomes and genomes. However, it is … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of … of genomic variants. Working groups are implementing evidence-based expert consensus methods to curate the …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… cell perturbation experiments coupled to single cell RNA sequencing. To analyze the downstream effects of … methods for discovering genotype to phenotype mappings for clinical applications; for both rare and complex diseases, … to contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses …